Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis

Autor: Karet, F. E., Gainza, F. J., Gyory, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., Di Pietro, A., Walker, W. G., Lifton, R. P.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1998 May . 95(11), 6337-6342.

Externí odkaz: https://www.jstor.org/stable/45380

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

Autor: Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H. -H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Beziat, V., Manry, J., Shaw, E., Haljasmagi, L., Peterson, P., Lorenzo, L., Bizien, L., Trouillet-Assant, S., Dobbs, K., de Jesus, A. A., Belot, A., Kallaste, A., Catherinot, E., Tandjaoui-Lambiotte, Y., Le Pen, J., Kerner, G., Bigio, B., Seeleuthner, Y., Yang, R., Bolze, A., Spaan, A. N., Delmonte, O. M., Abers, M. S., Aiuti, A., Casari, G., Lampasona, V., Piemonti, L., Ciceri, F., Bilguvar, K., Lifton, R. P., Vasse, M., Smadja, D. M., Migaud, M., Hadjadj, J., Terrier, B., Duffy, D., Quintana-Murci, L., van de Beek, D., Roussel, L., Vinh, D. C., Tangye, S. G., Haerynck, F., Dalmau, D., Martinez-Picado, J., Brodin, P., Nussenzweig, M. C., Boisson-Dupuis, S., Rodriguez-Gallego, C., Vogt, G., Mogensen, T. H., Oler, A. J., Gu, J., Burbelo, P. D., Cohen, J. I., Biondi, A., Bettini, L. R., Dangio, M., Bonfanti, P., Rossignol, P., Mayaux, J., Rieux-Laucat, F., Husebye, E. S., Fusco, F., Ursini, M. V., Imberti, L., Sottini, A., Paghera, S., Quiros-Roldan, E., Rossi, C., Castagnoli, R., Montagna, D., Licari, A., Marseglia, G. L., Duval, X., Ghosn, J., Tsang, J. S., Goldbach-Mansky, R., Kisand, K., Lionakis, M. S., Puel, A., Zhang, S. -Y., Holland, S. M., Gorochov, G., Jouanguy, E., Rice, C. M., Cobat, A., Notarangelo, L. D., Abel, L., H. C., Su, Casanova, J. -L., Arias, A. A., Boisson, B., Boucherit, S., Bustamante, J., Chbihi, M., Chen, J., Chrabieh, M., Kochetkov, T., Le Voyer, T., Liu, D., Nemirovskaya, Y., Ogishi, M., Papandrea, D., Patissier, C., Rapaport, F., Roynard, M., Vladikine, N., Woollett, M., Zhang, P., Kashyap, A., Ding, L., Bosticardo, M., Wang, Q., Ochoa, S., Liu, H., Chauvin, S. D., Stack, M., Koroleva, G., Bansal, N., Dalgard, C. L., Snow, A. L., Abad, J., Aguilera-Albesa, S., Akcan, O. M., Darazam, I. A., Aldave, J. C., Ramos, M. A., Nadji, S. A., Alkan, G., Allardet-Servent, J., Allende, L. M., Alsina, L., Alyanakian, M. -A., Amador-Borrero, B., Amoura, Z., Antoli, A., Arslan, S., Assant, S., Auguet, T., Azot, A., Bajolle, F., Baldolli, A., Ballester, M., Feldman, H. B., Barrou, B., Beurton, A., Bilbao, A., Blanchard-Rohner, G., Blanco, I., Blandinieres, A., Blazquez-Gamero, D., Bloomfield, M., Bolivar-Prados, M., Borie, R., Bousfiha, A. A., Bouvattier, C., Boyarchuk, O., Bueno, M. R. P., Agra, J. J. C., Calimli, S., Capra, R., Carrabba, M., Casasnovas, C., Caseris, M., Castelle, M., Castelli, F., de Vera, M. C., Castro, M. V., Chalumeau, M., Charbit, B., Cheng, M. P., Clave, P., Clotet, B., Codina, A., Colkesen, F., Colobran, R., Comarmond, C., Corsico, A. G., Darley, D. R., Dauby, N., Dauger, S., de Pontual, L., Dehban, A., Delplancq, G., Demoule, A., Di Sabatino, A., Diehl, J. -L., Dobbelaere, S., Durand, S., Eldars, W., Elgamal, M., Elnagdy, M. H., Emiroglu, M., Erdeniz, E. H., Aytekin, S. E., Euvrard, R., Evcen, R., Fabio, G., Faivre, L., Falck, A., Fartoukh, M., Faure, M., Arquero, M. F., Flores, C., Francois, B., Fumado, V., Solis, B. G., Gaussem, P., Gil-Herrera, J., Gilardin, L., Alarcon, M. G., Girona-Alarcon, M., Goffard, J. -C., Gok, F., Gonzalez-Montelongo, R., Guerder, A., Gul, Y., Guner, S. N., Gut, M., Halwani, R., Hammarstrom, L., Hatipoglu, N., Hernandez-Brito, E., Holanda-Pena, M. S., Horcajada, J. P., Hraiech, S., Humbert, L., Iglesias, A. D., Inigo-Campos, A., Jamme, M., Arranz, M. J., Jordan, I., Kanat, F., Kapakli, H., Kara, I., Karbuz, A., Yasar, K. K., Keles, S., Demirkol, Y. K., Klocperk, A., Krol, Z. J., Kuentz, P., Kwan, Y. W. M., Lagier, J. -C., Lau, Y. -L., Le Bourgeois, F., Leo, Y. -S., Lopez, R. L., Leung, D., Levin, M., Levy, M., Levy, R., Li, Z., Linglart, A., Lorenzo-Salazar, J. M., Louapre, C., Lubetzki, C., Luyt, C. -E., Lye, D. C., Mansouri, D., Marjani, M., Pereira, J. M., Martin, A., Pueyo, D. M., Marzana, I., Mathian, A., Matos, L. 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J., Ilovich, A. S., Shahrooei, M., Smadja, D., Sobh, A., Moreno, X. S., Sole-Violan, J., Soler, C., Soler-Palacin, P., Stepanovskiy, Y., Stoclin, A., Taccone, F., Tandjaoui-Lambiottea, Y., Taupin, J. -L., Tavernier, S. J., Thumerelle, C., Tomasoni, G., Toubiana, J., Alvarez, J. T., Trouillet-Assanta, S., Troya, J., Tucci, A., Uzunhan, Y., Vabres, P., Valencia-Ramos, J., van Den Rym, A. M., Vandernoot, I., Vatansev, H., Velez-Santamaria, V., Viel, S., Vilain, C., Vilaire, M. E., Vincent, A., Voiriot, G., Vuotto, F., Yosunkaya, A., Young, B. E., Yucel, F., Zannad, F., Zatz, M., Belota, A., Foti, G., Bellani, G., Citerio, G., Contro, E., Pesci, A., Valsecchi, M. 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C., Malvy, D., Mambert, M., Mentre, F., Mercier, N., Meziane, A., Mouquet, H., Mullaert, J., Neant, N., Noret, M., Pages, J., Papadopoulos, A., Paul, C., Peiffer-Smadja, N., Petrov-Sanchez, V., Peytavin, G., Picone, O., Puechal, O., Rosa-Calatrava, M., Rossignol, B., Roy, C., Schneider, M., Semaille, C., Mohammed, N. S., Tagherset, L., Tardivon, C., Tellier, M. -C., Teoule, F., Terrier, O., Timsit, J. -F., Treoux, T., Tual, C., Tubiana, S., van der Werf, S., Vanel, N., Veislinger, A., Visseaux, B., Wiedemann, A., Yazdanpanah, Y., Abelc, L., Alcover, A., Aschard, H., Astrom, K., Bousso, P., Bruhns, P., Cumano, A., Demangel, C., Deriano, L., Santo, J. D., Dromer, F., Eberl, G., Enninga, J., Fellay, J., Gomperts-Boneca, I., Hasan, M., Hercberg, S., Lantz, O., Patin, E., Pellegrini, S., Pol, S., Rausell, A., Rogge, L., Sakuntabhai, A., Schwartz, O., Schwikowski, B., Shorte, S., Tangy, F., Toubert, A., Touvier, M., Ungeheuer, M. -N., Albert, M. L., Alavoine, L., Amat, K. K. 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M., Prando, C., Pujol, A., Renia, L., Renieri, A., Sancho-Shimizu, V., Sankaran, V., Barrett, K. S., Snow, A., Tangye, S., Turvey, S., Uddin, F., Uddin, M. J., Vazquez, S. E., von Bernuth, H., Washington, N., Zawadzki, P., Sua, H. C., Casanovaa, J. -L.

Publikováno v: Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group & French COVID Cohort Study Group 2020, ' Autoantibodies against type I IFNs in patients with life-threatening COVID-19 ', Science, vol. 370, no. 6515, eabd4585 . https://doi.org/10.1126/science.abd4585
Bastard, P, Rosen, L B, Zhang, Q, Michailidis, E, Hoffmann, H H, Zhang, Y, Dorgham, K, Philippot, Q, Rosain, J, Béziat, V, Manry, J, Shaw, E, Haljasmägi, L, Peterson, P, Lorenzo, L, Bizien, L, Trouillet-Assant, S, Dobbs, K, de Jesus, A A, Belot, A, Kallaste, A, Catherinot, E, Tandjaoui-Lambiotte, Y, Le Pen, J, Kerner, G, Bigio, B, Seeleuthner, Y, Yang, R, Bolze, A, Spaan, A N, Delmonte, O M, Abers, M S, Aiuti, A, Casari, G, Lampasona, V, Piemonti, L, Ciceri, F, Bilguvar, K, Lifton, R P, Vasse, M, Smadja, D M, Migaud, M, Hadjadj, J, Terrier, B, Duffy, D, Quintana-Murci, L, van de Beek, D, Roussel, L, Mogensen, T H, Casanova, J L, HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group, French COVID Cohort Study Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank & COVID Human Genetic Effort 2020, ' Autoantibodies against type I IFNs in patients with life-threatening COVID-19 ', Science, vol. 370, no. 6515, eabd4585 . https://doi.org/10.1126/science.abd4585
Science
Science, American Association for the Advancement of Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
Science (Wayville, S. Aust.) 370 (2020). doi:10.1126/science.abd4585
info:cnr-pdr/source/autori:Paul Bastard # 1 2 3, Lindsey B Rosen # 4, Qian Zhang # 3, Eleftherios Michailidis # 5, Hans-Heinrich Hoffmann # 5, Yu Zhang # 4, Karim Dorgham # 6, Quentin Philippot # 7 2, Jérémie Rosain # 7 2, Vivien Béziat # 7 2 3, Jérémy Manry 7 2, Elana Shaw 4, Liis Haljasmägi 8, Pärt Peterson 8, Lazaro Lorenzo 7 2, Lucy Bizien 7 2, Sophie Trouillet-Assant 9 10, Kerry Dobbs 4, Adriana Almeida de Jesus 4, Alexandre Belot 10 11 12, Anne Kallaste 13, Emilie Catherinot 14, Yacine Tandjaoui-Lambiotte 15, Jeremie Le Pen 5, Gaspard Kerner 7 2, Benedetta Bigio 3, Yoann Seeleuthner 7 2, Rui Yang 3, Alexandre Bolze 16, András N Spaan 3 17, Ottavia M Delmonte 4, Michael S Abers 4, Alessandro Aiuti 18, Giorgio Casari 18, Vito Lampasona 18, Lorenzo Piemonti 18, Fabio Ciceri 18, Kaya Bilguvar 19, Richard P Lifton 19 20 21, Marc Vasse 22, David M Smadja 23, Mélanie Migaud 7 2, Jérome Hadjadj 24, Benjamin Terrier 25, Darragh Duffy 26, Lluis Quintana-Murci 27 28, Diederik van de Beek 29, Lucie Roussel 30 31, Donald C Vinh 30 31, Stuart G Tangye 32 33, Filomeen Haerynck 34, David Dalmau 35, Javier Martinez-Picado 36 37 38, Petter Brodin 39 40, Michel C Nussenzweig 41 42, Stéphanie Boisson-Dupuis 7 2 3, Carlos Rodríguez-Gallego 43 44, Guillaume Vogt 45, Trine H Mogensen 46 47, Andrew J Oler 48, Jingwen Gu 48, Peter D Burbelo 49, Jeffrey I Cohen 50, Andrea Biondi 51, Laura Rachele Bettini 51, Mariella D'Angio 51, Paolo Bonfanti 52, Patrick Rossignol 53, Julien Mayaux 54, Frédéric Rieux-Laucat 24, Eystein S Husebye 55 56 57, Francesca Fusco 58, Matilde Valeria Ursini 58, Luisa Imberti 59, Alessandra Sottini 59, Simone Paghera 59, Eugenia Quiros-Roldan 60, Camillo Rossi 61, Riccardo Castagnoli 62, Daniela Montagna 63 64, Amelia Licari 62, Gian Luigi Marseglia 62, Xavier Duval 65 66 67 68 69, Jade Ghosn 68 69, HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort; John S Tsang 70 71, Raphaela Goldbach-Mansky 4, Kai Kisand 8, Michail S Lionakis 4, Anne Puel 7 2 3, Shen-Ying Zhang 7 2 3, Steven M Holland # 4, Guy Gorochov # 6 72, Emmanuelle Jouanguy # 7 2 3, Charles M Rice # 5, Aurélie Cobat # 7 2 3, Luigi D Notarangelo # 4, Laurent Abel # 7 2 3, Helen C Su # 4, Jean-Laurent Casanova/titolo:Autoantibodies against type I IFNs in patients with life-threatening COVID-19/doi:10.1126%2Fscience.abd4585/rivista:Science (Wayville, S. Aust.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:370
Science, 370 (6515
Science (New York, N.y.)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Science, 370(6515):eabd4585. American Association for the Advancement of Science
Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
Digital.CSIC. Repositorio Institucional del CSIC
Science (New York, N.Y.) 370 (2020). doi:10.1126/science.abd4585
info:cnr-pdr/source/autori:Bastard P.; Rosen L.B.; Zhang Q.; Michailidis E.; Hoffmann H.-H.; Zhang Y.; Dorgham K.; Philippot Q.; Rosain J.; Beziat V.; Manry J.; Shaw E.; Haljasmagi L.; Peterson P.; Lorenzo L.; Bizien L.; Trouillet-Assant S.; Dobbs K.; de Jesus A.A.; Belot A.; Kallaste A.; Catherinot E.; Tandjaoui-Lambiotte Y.; Le Pen J.; Kerner G.; Bigio B.; Seeleuthner Y.; Yang R.; Bolze A.; Spaan A.N.; Delmonte O.M.; Abers M.S.; Aiuti A.; Casari G.; Lampasona V.; Piemonti L.; Ciceri F.; Bilguvar K.; Lifton R.P.; Vasse M.; Smadja D.M.; Migaud M.; Hadjadj J.; Terrier B.; Duffy D.; Quintana-Murci L.; van de Beek D.; Roussel L.; Vinh D.C.; Tangye S.G.; Haerynck F.; Dalmau D.; Martinez-Picado J.; Brodin P.; Nussenzweig M.C.; Boisson-Dupuis S.; Rodriguez-Gallego C.; Vogt G.; Mogensen T.H.; Oler A.J.; Gu J.; Burbelo P.D.; Cohen J.I.; Biondi A.; Bettini L.R.; D'Angio M.; Bonfanti P.; Rossignol P.; Mayaux J.; Rieux-Laucat F.; Husebye E.S.; Fusco F.; Ursini M.V.; Imberti L.; Sottini A.; Paghera S.; Quiros-Roldan E.; Rossi C.; Castagnoli R.; Montagna D.; Licari A.; Marseglia G.L.; Duval X.; Ghosn J.; Tsang J.S.; Goldbach-Mansky R.; Kisand K.; Lionakis M.S.; Puel A.; Zhang S.-Y.; Holland S.M.; Gorochov G.; Jouanguy E.; Rice C.M.; Cobat A.; Notarangelo L.D.; Abel L.; Su H.C.; Casanova J.-L./titolo:Autoantibodies against type I IFNs in patients with life-threatening COVID-19/doi:10.1126%2Fscience.abd4585/rivista:Science (New York, N.Y.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:370
Science, American Association for the Advancement of Science (AAAS), 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
eabd4585
370:eabd4585
SCIENCE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

HGID Lab Andrés Augusto Arias1,3, Bertrand Boisson1,2, Soraya Boucherit2, Jacinta Bustamante1,2, Marwa Chbihi2, Jie Chen1, Maya Chrabieh2, Tatiana Kochetkov1, Tom Le Voyer2, Dana Liu1, Yelena Nemirovskaya1, Masato Ogishi1, Dominick Papandrea1, Céci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e45dfdfa6aab0683289a59e92561b44

Autoantibodies neutralizing type I IFNs are present in similar to 4\% of uninfected individuals over 70 years old and account for similar to 20\% of COVID-19 deaths

Autor: Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann H, Eto S, Garcia-Prat M, Bizien L, Parra-Martinez A, Yang R, Haljasmagi L, Migaud M, Sarekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt C, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garcon P, Riviere J, Lagier J, Gentile S, Rosen L, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux P, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath J, Franco J, Anaya J, Sole-Violan J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte O, Zhang Y, Snow A, Holland S, Biggs C, Moncada-Velez M, Arias A, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas A, Haerynck F, Duvlis S, Nussbaum R, Ozcelik T, Keles S, Bousfiha A, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarstrom Q, Hammarstrom L, Dupont A, Kurolap A, Metz C, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros L, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye S, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann N, Shcherbina A, Lau Y, Leung D, Coulongeat M, Marlet J, Koning R, Reyes L, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig M, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer A, Kennelly S, Bourke N, Halwani R, Sharif-Askari N, Dorgham K, Sallette J, Sedkaoui S, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh D, Ostrowski S, Condino-Neto A, Prando C, Bondarenko A, Spaan A, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton R, Mane S, Anderson M, Boisson B, Beziat V, Zhang S, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen T, Rowen L, Mond J, Debette S, de Lamballerie X, Duval X, Mentre F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen P, Piemonti L, Rodriguez-Gallego C, Notarangelo L, Su H, Kisand K, Okada S, Puel A, Jouanguy E, Rice C, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova J, HGID Lab, COVID Clinicians, COVID-STORM Clinicians, NIAID Immune Response Covid Grp, NH-COVAIR Study Grp, Danish CHGE, Danish Blood Donor Study, St Jamess Hosp Sars CoV2 Interest, French COVID Cohort Study Grp, Imagine COVID-Grp, Milieu Interieur Consortium, CoV-Contact Cohort, Amsterdam Umc Covid-19 Biobank Inv, COVID Human Genetic Efft, CONSTANCES Cohort, 3C-Dijon Study, Cerba HealthCare, Etab Sang Study Grp

Publikováno v: Science immunology
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Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/ml; in plasma diluted 1:10) of IFN-alpha and/or IFN-omega are found in about 10% of patients with critical COVID-19 (coronavirus disease 2019) pneumonia but not in individu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::587a3d14817155fe2819536c8b9a870b
https://doi.org/10.1126/sciimmunol.abl4340

180 ASPRV1 mutations cause dominantly inherited ichthyosis

Autor: Boyden, L., Zhou, J., Hu, R., Zaki, T., Loring, E., Scott, J., Traupe, H., Paller, A., Lifton, R., Choate, K.

Publikováno v: In Journal of Investigative Dermatology May 2021 141(5) Supplement:S32-S32

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